Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001873228 | SCV002225020 | pathogenic | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 638060). This premature translational stop signal has been observed in individual(s) with sponastrime dysplasia (PMID: 30773277). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln803*) in the TONSL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TONSL are known to be pathogenic (PMID: 30773277). |
OMIM | RCV000790526 | SCV000929858 | pathogenic | Sponastrime dysplasia | 2019-07-24 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000790526 | SCV001439041 | likely pathogenic | Sponastrime dysplasia | no assertion criteria provided | research |